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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Camptosynpolydactyly, Complex
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Accession:DOID:9003579 term browser browse the term
Synonyms:exact_synonym: CCSPD;   Camptopolydactyly, Disorganization Type
 primary_id: MESH:C564383;   RDO:0013367
 alt_id: OMIM:607539
For additional species annotation, visit the Alliance of Genome Resources.



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Camptosynpolydactyly, Complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Camptosynpolydactyly, complex OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      Congenital Foot Deformities 87
        Camptosynpolydactyly, Complex 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Lower Extremity Deformities, Congenital 96
                Congenital Foot Deformities 87
                  Camptosynpolydactyly, Complex 1
paths to the root